C206111Level 9
Familial Adult Myoclonic Epilepsy 1
**Semantic type:** Disease or Syndrome
**Definition:** An autosomal dominant condition caused by mutation(s) in the SAMD12 gene, encoding sterile alpha motif domain-containing protein 12. It is characterized by adult onset cortical myoclonic tremor and epilepsy.
**Synonyms:** - FAME1 - FCMTE1 - Familial Cortical Myoclonic Tremor Associated with Epilepsy-1
GET
/api/v1/systems/nci_thesaurus/nodes/C206111Hierarchy Explorer
Loading...
Cross-system equivalences0
No cross-system equivalences mapped for this node.